214 related articles for article (PubMed ID: 32165109)
1. Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation.
Gite J; Milko E; Brady L; Baker SK
Neuromuscul Disord; 2020 Mar; 30(3):232-235. PubMed ID: 32165109
[TBL] [Abstract][Full Text] [Related]
2. A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
Gonzalez MA; Feely SM; Speziani F; Strickland AV; Danzi M; Bacon C; Lee Y; Chou TF; Blanton SH; Weihl CC; Zuchner S; Shy ME
Brain; 2014 Nov; 137(Pt 11):2897-902. PubMed ID: 25125609
[TBL] [Abstract][Full Text] [Related]
3. Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
[TBL] [Abstract][Full Text] [Related]
4. Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
Street VA; Meekins G; Lipe HP; Seltzer WK; Carter GT; Kraft GH; Bird TD
Neuromuscul Disord; 2002 Oct; 12(7-8):643-50. PubMed ID: 12207932
[TBL] [Abstract][Full Text] [Related]
5. The shifting paradigm of Charcot-Marie-Tooth disease.
Echaniz-Laguna A
Rev Neurol (Paris); 2015; 171(6-7):498-504. PubMed ID: 25896909
[TBL] [Abstract][Full Text] [Related]
6. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
Sevilla T; Lupo V; Martínez-Rubio D; Sancho P; Sivera R; Chumillas MJ; García-Romero M; Pascual-Pascual SI; Muelas N; Dopazo J; Vílchez JJ; Palau F; Espinós C
Brain; 2016 Jan; 139(Pt 1):62-72. PubMed ID: 26497905
[TBL] [Abstract][Full Text] [Related]
7. Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.
van Paassen BW; Bronk M; Verhamme C; van Ruissen F; Baas F; van Spaendonck-Zwarts KY; de Visser M
J Peripher Nerv Syst; 2017 Dec; 22(4):464-467. PubMed ID: 28837237
[TBL] [Abstract][Full Text] [Related]
8. Atypical presentation of Charcot-Marie-Tooth disease 1A: A case report.
Kulkarni SD; Sayed R; Garg M; Patil VA
Neuromuscul Disord; 2015 Nov; 25(11):916-9. PubMed ID: 26432165
[TBL] [Abstract][Full Text] [Related]
9. Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease).
Chan CK; Mohsenin V; Loke J; Virgulto J; Sipski ML; Ferranti R
Chest; 1987 Apr; 91(4):567-70. PubMed ID: 3829750
[TBL] [Abstract][Full Text] [Related]
10. Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease.
Nan H; Takaki R; Hata T; Ichinose Y; Tsuchiya M; Koh K; Takiyama Y
J Peripher Nerv Syst; 2019 Mar; 24(1):156-160. PubMed ID: 30394614
[TBL] [Abstract][Full Text] [Related]
11. Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.
Khani M; Taheri H; Shamshiri H; Houlden H; Efthymiou S; Alavi A; Nafissi S; Elahi E
Am J Med Genet A; 2019 Aug; 179(8):1507-1515. PubMed ID: 31111683
[TBL] [Abstract][Full Text] [Related]
12. Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
Berciano J; García A; Gallardo E; Peeters K; Pelayo-Negro AL; Álvarez-Paradelo S; Gazulla J; Martínez-Tames M; Infante J; Jordanova A
J Neurol; 2017 Aug; 264(8):1655-1677. PubMed ID: 28364294
[TBL] [Abstract][Full Text] [Related]
13. X-linked Charcot-Marie-Tooth disease: molecular analysis of interfamilial variability.
Niewiadomski LA; Kelly TE
Am J Med Genet; 1996 Dec; 66(2):175-8. PubMed ID: 8958325
[TBL] [Abstract][Full Text] [Related]
14. Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A).
Posa A; Emmer A; Kornhuber ME
Clin Neurol Neurosurg; 2017 Apr; 155():20-21. PubMed ID: 28214652
[TBL] [Abstract][Full Text] [Related]
15. A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC.
Yan J; Qiao L; Peng H; Liu A; Wu J; Huang J
Neurol Sci; 2021 Feb; 42(2):757-763. PubMed ID: 32780247
[TBL] [Abstract][Full Text] [Related]
16. [The genetics of type 1 Charcot-Marie-Tooth disease, the hereditary focal neuropathies and the hereditary distal motor neuropathies].
Sevilla T
Rev Neurol; 2000 Jan 1-15; 30(1):71-9. PubMed ID: 10743001
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
Boubaker C; Hsairi-Guidara I; Castro C; Ayadi I; Boyer A; Kerkeni E; Courageot J; Abid I; Bernard R; Bonello-Palot N; Kamoun F; Cheikh HB; Lévy N; Triki C; Delague V
Ann Hum Genet; 2013 Jul; 77(4):336-43. PubMed ID: 23550889
[TBL] [Abstract][Full Text] [Related]
18. [Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Molecular-genetic aspects].
Hertz MJ; Jensen AD; Brandt CA; Bisgård C
Ugeskr Laeger; 1995 Jun; 157(25):3613-8. PubMed ID: 7652980
[TBL] [Abstract][Full Text] [Related]
19. Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.
Borgulová I; Mazanec R; Sakmaryová I; Havlová M; Safka Brožková D; Seeman P
Neurogenetics; 2013 Nov; 14(3-4):189-95. PubMed ID: 23912496
[TBL] [Abstract][Full Text] [Related]
20. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
Bird TD; Kraft GH; Lipe HP; Kenney KL; Sumi SM
Ann Neurol; 1997 Apr; 41(4):463-9. PubMed ID: 9124803
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]